SLC29A1
Equilibrative nucleoside transporter 1
Also known as: ENT1, S29A1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99808
- Gene
- SLC29A1
- Ensembl
- ENSG00000112759
- Chromosome
- 6
- Canonical length
- 456 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
456 residues, UniProt reviewed canonical sequence.
>Q99808|SLC29A1
1 MTTSHQPQDR YKAVWLIFFM LGLGTLLPWN FFMTATQYFT NRLDMSQNVS LVTAELSKDA
61 QASAAPAAPL PERNSLSAIF NNVMTLCAML PLLLFTYLNS FLHQRIPQSV RILGSLVAIL
121 LVFLITAILV KVQLDALPFF VITMIKIVLI NSFGAILQGS LFGLAGLLPA SYTAPIMSGQ
181 GLAGFFASVA MICAIASGSE LSESAFGYFI TACAVIILTI ICYLGLPRLE FYRYYQQLKL
241 EGPGEQETKL DLISKGEEPR AGKEESGVSV SNSQPTNESH SIKAILKNIS VLAFSVCFIF
301 TITIGMFPAV TVEVKSSIAG SSTWERYFIP VSCFLTFNIF DWLGRSLTAV FMWPGKDSRW
361 LPSLVLARLV FVPLLLLCNI KPRRYLTVVF EHDAWFIFFM AAFAFSNGYL ASLCMCFGPK
421 KVKPAEAETA GAIMAFFLCL GLALGAVFSF LFRAIVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC29A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 11
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 135 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 135 nTPM
- heart muscle: 130 nTPM
- blood vessel: 119 nTPM
- colon: 112 nTPM
- adipose tissue: 111 nTPM
- adrenal gland: 108 nTPM
Single-cell type
- extravillous trophoblasts: 279 nCPM
- cytotrophoblasts: 267 nCPM
- oocytes: 253 nCPM
- migrating cytotrophoblasts: 215 nCPM
- adrenal medulla cells: 128 nCPM
- granulosa cells: 118 nCPM
Immune cell
- eosinophil: 1,049 nTPM
- plasmacytoid DC: 40 nTPM
- intermediate monocyte: 39 nTPM
- non-classical monocyte: 33 nTPM
- basophil: 22 nTPM
- classical monocyte: 12 nTPM
Brain region
- pons: 38 nTPM
- cerebral cortex: 36 nTPM
- cerebellum: 33 nTPM
- hypothalamus: 32 nTPM
- medulla oblongata: 30 nTPM
- white matter: 29 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC29A1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 70 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hemolytic disease of fetus OR newborn due to isoimmunization
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.38
- gnomAD pLI
- 0.9
- gnomAD missense Z
- 0.72
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenine transport
- adenosine transport
- ADP catabolic process
- AMP catabolic process
- cellular response to glucose stimulus
- cellular response to hypoxia
- cytidine transport
- excitatory postsynaptic potential
- guanine transmembrane transport
- hypoxanthine transport
- inosine transport
- lactation
- neurotransmitter transport
- neurotransmitter uptake
- nucleobase transport
- nucleobase-containing compound metabolic process
- nucleoside transmembrane transport
- nucleoside transport
- purine nucleobase transmembrane transport
- purine nucleoside transmembrane transport
- pyrimidine nucleobase transmembrane transport
- pyrimidine-containing compound transmembrane transport
- response to antibiotic
- thymine transport
- transport across blood-brain barrier
- uracil transmembrane transport
- uridine transmembrane transport
- xenobiotic metabolic process
- xenobiotic transmembrane transport
Molecular functions
- adenine transmembrane transporter activity
- cytidine transmembrane transporter activity
- guanine transmembrane transporter activity
- neurotransmitter transmembrane transporter activity
- nucleoside transmembrane transporter activity
- purine nucleoside transmembrane transporter activity
- pyrimidine- and adenosine-specific:sodium symporter activity
- uracil transmembrane transporter activity
- uridine transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC29A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC29A1 as an antibody target. Whether an autoantibody or antibody against SLC29A1 could matter depends on whether native SLC29A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC29A1 is annotated at the cell surface, where native SLC29A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC29A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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